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  1. Article ; Online: Reply to R.L. Nussbaum et al and J.S. Dolinsky et al.

    Balmaña, Judith / Nathanson, Katherine / Offit, Kenneth / Robson, Mark / Domchek, Susan

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology

    2017  Volume 35, Issue 11, Page(s) 1262–1263

    MeSH term(s) Humans ; Prospective Studies ; Prostatic Neoplasms ; Registries ; Risk
    Language English
    Publishing date 2017-01-30
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 604914-x
    ISSN 1527-7755 ; 0732-183X
    ISSN (online) 1527-7755
    ISSN 0732-183X
    DOI 10.1200/JCO.2016.71.3859
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1847: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Zs.MO 650: Show issues

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  2. Article ; Online: Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects.

    Hasanov, Elshad / Pimentel, Isabel / Cruellas, Mara / Lewis, Mark A / Jonasch, Eric / Balmaña, Judith

    American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting

    2022  Volume 42, Page(s) 1–17

    Abstract: Advances in the genetic basis of different tumors have led to identification of tumor vulnerabilities that can be turn into targeted therapies. In this regard, PARP inhibitors cause synthetic lethality with tumors ... ...

    Abstract Advances in the genetic basis of different tumors have led to identification of tumor vulnerabilities that can be turn into targeted therapies. In this regard, PARP inhibitors cause synthetic lethality with tumors harboring
    MeSH term(s) Drug Development ; Genomics ; Humans ; Mutation ; Neoplastic Syndromes, Hereditary/drug therapy ; Neoplastic Syndromes, Hereditary/genetics ; von Hippel-Lindau Disease/genetics ; von Hippel-Lindau Disease/pathology ; von Hippel-Lindau Disease/therapy
    Language English
    Publishing date 2022-06-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2431126-1
    ISSN 1548-8756 ; 1548-8748
    ISSN (online) 1548-8756
    ISSN 1548-8748
    DOI 10.1200/EDBK_350232
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).

    Sánchez-Heras, Ana Beatriz / Ramon Y Cajal, Teresa / Pineda, Marta / Aguirre, Elena / Graña, Begoña / Chirivella, Isabel / Balmaña, Judit / Brunet, Joan

    Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico

    2023  Volume 25, Issue 9, Page(s) 2627–2633

    Abstract: Li-Fraumeni syndrome is caused by heterozygous germline pathogenic variants in the TP53 gene. It involves a high risk of a variety of malignant tumors in childhood and adulthood, the main ones being premenopausal breast cancer, soft tissue sarcomas and ... ...

    Abstract Li-Fraumeni syndrome is caused by heterozygous germline pathogenic variants in the TP53 gene. It involves a high risk of a variety of malignant tumors in childhood and adulthood, the main ones being premenopausal breast cancer, soft tissue sarcomas and osteosarcomas, central nervous system tumors, and adrenocortical carcinomas. The variability of the associated clinical manifestations, which do not always fit the classic criteria of Li-Fraumeni syndrome, has led the concept of SLF to extend to a more overarching cancer predisposition syndrome, termed hereditable TP53-related cancer syndrome (hTP53rc). However, prospective studies are needed to assess genotype-phenotype characteristics, as well as to evaluate and validate risk-adjusted recommendations. This guideline aims to establish the basis for interpreting pathogenic variants in the TP53 gene and provide recommendations for effective screening and prevention of associated cancers in carrier individuals.
    MeSH term(s) Humans ; Li-Fraumeni Syndrome/genetics ; Tumor Suppressor Protein p53/genetics ; Adrenocortical Carcinoma/genetics ; Germ-Line Mutation ; Adrenal Cortex Neoplasms/genetics ; Bone Neoplasms ; Genetic Predisposition to Disease
    Chemical Substances Tumor Suppressor Protein p53 ; TP53 protein, human
    Language English
    Publishing date 2023-05-03
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2397359-6
    ISSN 1699-3055 ; 1699-048X
    ISSN (online) 1699-3055
    ISSN 1699-048X
    DOI 10.1007/s12094-023-03202-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6644: Show issues Location:
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  4. Article ; Online: Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

    Rofes, Paula / Dueñas, Núria / Del Valle, Jesús / Navarro, Matilde / Balmaña, Judith / Ramón Y Cajal, Teresa / Tuset, Noemí / Castillo, Carmen / González, Sara / Brunet, Joan / Capellá, Gabriel / Lázaro, Conxi / Pineda, Marta

    Cancer medicine

    2024  Volume 13, Issue 7, Page(s) e7041

    Abstract: Background: Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR ... ...

    Abstract Background: Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR inactivation in a variable range of LLS-associated tumors. Moreover, translating tumor testing results into patient management remains controversial. Our aim is to assess the challenges associated with the implementation of tumoral MMR gene testing in routine workflows.
    Methods: Here, we present the clinical characterization of 229 LLS patients. MMR gene testing was performed in 39 available tumors, and results were analyzed using two variant allele frequency (VAF) thresholds (≥5% and ≥10%).
    Results and discussion: More biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS cases.
    MeSH term(s) Humans ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; Germ-Line Mutation ; Neoplastic Syndromes, Hereditary ; Brain Neoplasms ; DNA Mismatch Repair/genetics
    Language English
    Publishing date 2024-04-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2659751-2
    ISSN 2045-7634 ; 2045-7634
    ISSN (online) 2045-7634
    ISSN 2045-7634
    DOI 10.1002/cam4.7041
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Controversies in oncology: are genomic tests quantifying homologous recombination repair deficiency (HRD) useful for treatment decision making?

    Pellegrino, Benedetta / Mateo, Joaquin / Serra, Violeta / Balmaña, Judith

    ESMO open

    2019  Volume 4, Issue 2, Page(s) e000480

    Language English
    Publishing date 2019-05-09
    Publishing country England
    Document type Editorial
    ISSN 2059-7029
    ISSN 2059-7029
    DOI 10.1136/esmoopen-2018-000480
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing.

    Rezqallah, Alejandra / Torres-Esquius, Sara / Llop-Guevara, Alba / Cruellas, Mara / Martinez, María T / Romey, Marcel / Denkert, Carsten / Serra, Violeta / Chirivella, Isabel / Balmaña, Judith

    JCO precision oncology

    2024  Volume 8, Page(s) e2300446

    Abstract: Homologous recombination proficiency in patients with breast cancer despite germline PALB2/RAD51C pathogenic variants. ...

    Abstract Homologous recombination proficiency in patients with breast cancer despite germline PALB2/RAD51C pathogenic variants.
    MeSH term(s) Humans ; Female ; Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/genetics ; Homologous Recombination/genetics ; Germ Cells/pathology
    Language English
    Publishing date 2024-03-21
    Publishing country United States
    Document type Journal Article
    ISSN 2473-4284
    ISSN (online) 2473-4284
    DOI 10.1200/PO.23.00446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Book ; Conference proceedings: J. V. Foix, investigador en poesia i amic de les arts

    Vives i Balmaña, Elisenda

    exposició organitzada per la Fundació "la Caixa" i el Departament de Cultura de la Generalitat de Catalunya, juntament amb la Fundació J. V. Foix en commemoració del centenari del naixement de J. V. Foix ; 4 de febrer - 3 d'abril de 1994

    1994  

    Title variant Investigador en poesia i amic de les arts
    Institution Fundación Caja
    Event/congress Exposició J.V. Foix, Investigador en Poesia i Amic de les Arts (1994.02.04-04.03, Barcelona)
    Author's details [catàleg coord. Elisenda Vives]
    Language Catalan
    Size 175 S, zahlr. Ill, 30 cm
    Edition 1. ed
    Publishing place Barcelona
    Document type Book ; Conference proceedings
    Note Includes bibliographical references (p. 172-175) ; One folded leaf consisting of facsimiles of articles by Foix published, in La Publicitat between 1928 and 1934, in pocket
    Accompanying material 1 Beil
    ISBN 8476644418 ; 9788476644416
    Database Former special subject collection: coastal and deep sea fishing

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  8. Article ; Online: A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling.

    Esteban, I / Lopez-Fernandez, A / Balmaña, J

    European journal of medical genetics

    2018  Volume 62, Issue 5, Page(s) 342–349

    Abstract: Massively parallel sequencing is being implemented in clinical practice through the use of multigene panel testing, whole exome sequencing and whole genome sequencing. In this manuscript we explore how the use of massively parallel sequencing, and in ... ...

    Abstract Massively parallel sequencing is being implemented in clinical practice through the use of multigene panel testing, whole exome sequencing and whole genome sequencing. In this manuscript we explore how the use of massively parallel sequencing, and in particular multigene cancer panel testing, is potentially changing the process of genetic counselling and how patients cope with pre-test genetic counselling and results. We found that the main challenges are around uncertainty, hopes and expectations and the amount and complexity of information that needs to be discussed. This may impact the process of genetic counselling, although genetic counsellors can still use their core skills and enhance some of them in order to evolve and meet patients' needs in the genomics era. Available data suggests that patients can cope with multigene cancer panels although more research is needed to fully understand the psychosocial implications of multigene cancer panels for patients, especially for those who have variants of unknown significance or moderate penetrance variants. Research is also needed to explore and develop communication models that maximize patients' understanding and empower them to make informed decisions.
    MeSH term(s) Adaptation, Psychological ; Attitude ; Biomarkers, Tumor/genetics ; Genetic Counseling/methods ; Genetic Counseling/psychology ; Genetic Counseling/standards ; Genetic Predisposition to Disease/psychology ; Humans ; Neoplasms/genetics ; Patient Outcome Assessment ; Penetrance
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2018-11-23
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2018.11.027
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 84/9: Show issues Location:
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  9. Article ; Online: Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.

    Marmolejo, David Humberto / Wong, Mark Yu Zheng / Bajalica-Lagercrantz, Svetlana / Tischkowitz, Marc / Balmaña, Judith

    European journal of medical genetics

    2021  Volume 64, Issue 12, Page(s) 104350

    Abstract: Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but also other causative genes such as ... ...

    Abstract Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast and/or ovarian cancer most commonly due to germline disease-causing variants in the BRCA1 and BRCA2 genes, but also other causative genes such as PALB2, ATM and CHEK2. As genetic testing becomes more prevalent and new clinical data emerge, updates of national guidelines are required to incorporate these advances in our knowledge. The aim of this work is to review the guidelines for HBOC genetic testing and clinical surveillance across European countries, mostly affiliated to the European Reference Network (ERN) for Genetic Tumor Risk Syndroms (GENTURIS). Young onset breast cancer (BC), triple negative phenotype, or bilateral BC are considered as criteria for genetic testing in all, with differences in age limits. Testing of invasive epithelial non-mucinous ovarian cancer is also universally accepted. While breast magnetic resonance imaging (MRI) is consistently recommended in high-risk individuals, age of onset for mammograms differ between 30 and 40 years. Risk-reducing mastectomy is commonly offered as an option, while risk-reducing salpingo-oophorectomy is universally recommended. The largest differences are observed with respect to ovarian surveillance prior to risk-reducing salpingo-oophorectomy and in breast surveillance for carriers of non-BRCA1/2 genes. These differences in national guidelines reflect the variations in clinical consensus that may be reached in the absence of consistent evidence for some recommendations.
    MeSH term(s) Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Europe ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Testing/standards ; Humans ; Mastectomy/methods ; Ovarian Neoplasms/diagnosis ; Ovarian Neoplasms/genetics
    Language English
    Publishing date 2021-10-01
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104350
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: PARP inhibitors in ovarian cancer.

    Cibula, David / Balmaña, Judith

    British journal of cancer

    2015  Volume 113 Suppl 1, Page(s) S1–2

    MeSH term(s) Female ; Humans ; Ovarian Neoplasms/drug therapy ; Poly(ADP-ribose) Polymerase Inhibitors/administration & dosage ; Poly(ADP-ribose) Polymerase Inhibitors/metabolism ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use
    Chemical Substances Poly(ADP-ribose) Polymerase Inhibitors
    Language English
    Publishing date 2015-12-15
    Publishing country England
    Document type Introductory Journal Article
    ZDB-ID 80075-2
    ISSN 1532-1827 ; 0007-0920
    ISSN (online) 1532-1827
    ISSN 0007-0920
    DOI 10.1038/bjc.2015.392
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